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Charcot-marie-tooth disease

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Charcot-Marie-Tooth disease is a neurological and degenerative disease that affects the nerves and joints of the body, causing difficulty or inability to walk and weakness to hold objects with your hands.

Often those who have this disease need to use a wheelchair, but they can live for many years and their intellectual capacity is maintained. Treatment requires medication and physical therapy for life.

How it manifests

Signs and symptoms that may indicate Charcot-Marie-Tooth disease include:

  • Changes in the feet, such as a very sharp upward curve of the foot and claw toes; Some people have difficulty walking, with frequent falls, due to lack of balance, which can cause ankle sprains or fractures; others cannot walk; tremor in the hands; difficulty in coordinating hand movements, being difficult to write, buttoning clothes or cooking; frequent weakness and tiredness; pain in the lumbar spine and scoliosis are also found; muscles of the legs, arms, hands and atrophied feet; decreased sensitivity to touch and temperature difference in the legs, arms, hands and feet; complaints such as pain, cramps, tingling and numbness throughout the body are common in daily life.

The most common is that the child develops normally and the parents do not suspect anything, until around 3 years of age the first signs begin to appear with weakness in the legs, frequent falls, dropping objects, decreased muscle volume and other signs indicated above.

How the treatment is done

The treatment of Charcot-Marie-Tooth Disease should be guided by the neurologist, and it may be indicated to take medicines that help to deal with the symptoms, since this disease has no cure. Other forms of treatment include neurophysiotherapy, hydrotherapy and occupational therapy, for example, which are capable of relieving discomfort and improving a person's daily life.

Generally the person needs a wheelchair and small equipment can be indicated to help the person brush their teeth, get dressed and eat alone. Sometimes joint surgery may be necessary to improve the use of these small devices.

There are several drugs that are contraindicated for people who have Charcot-Marie-Tooth Disease because they aggravate the symptoms of the disease and that is why taking medications should only be done under medical advice and with the knowledge of the neurologist.

In addition, the diet should be recommended by a nutritionist because there are foods that aggravate the symptoms, while others help in the treatment of the disease. Selenium, copper, vitamins C and E, lipoic acid and magnesium should be consumed daily by eating foods such as Brazil nuts, liver, cereals, nuts, orange, lemon, spinach, tomatoes, peas and dairy products, for example.

Main types

There are several different types of this disease and that is why there are certain differences and peculiarities between each patient. The main types, because they are the most common, are:

  • Type 1: it is characterized by changes in the myelin sheath, which covers the nerves, which reduces the speed of transmission of nerve impulses; Type 2: is characterized by changes that damage the axons; Type 4: it can affect both the myelin sheath and the axons, but what differentiates it from other types is that it is autosomal recessive; Type X: is characterized by changes in the X chromosome, being more severe in men than in women.

This disease progresses slowly and progressively, and its diagnosis is usually made in childhood or up to the age of 20 through a genetic test and an electroneuromyography exam, requested by the neurologist.

Charcot-marie-tooth disease